Universal newborn screening for congenital cytomegalovirus infection: feasibility and relevance in a French type‐III maternity cohort

Letamendia-Richard, Emmanuelle; Périllaud-Dubois, Claire; Guillonnière, Liloïe de la; Thouard, Isabelle; Cordier, Anne-Gaël; Roque-Afonso, Ana-Maria; Luca, Danièle De; Benachi, Alexandra; Vauloup‐Fellous, Christelle

doi:10.1111/1471-0528.16992

Cited by 18 publications

(28 citation statements)

References 39 publications

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“…In 7.4% of the infants with a CMV-DNA very low/low positive first saliva sample, the repeated saliva samples also resulted CMV-DNA positive with very low viral load (i.e., the maximum value of CMV-DNA detected was equal to 2.34 log 10 IU/ml). These findings in agreement with recent literature ( 17 – 20 ) showed that a definitive diagnosis of cCMV, avoiding unnecessary tests and waste of resources, is to be confirmed by investigating urine sample that remains the gold standard for the diagnosis of cCMV infection. However, the collection of urine samples can be difficult and time-consuming compared to the saliva collection ( 8 , 9 ).…”

Section: Discussionsupporting

confidence: 92%

“…Therefore, saliva sampling in newborn screening programs is easier and more practical. In this study, in line with others ( 16 , 20 , 21 ), a low overall percentage (1.7%) of false-positive saliva screening samples was observed, confirming the suitability of this testing methodology. It is known that a potential CMV-DNA contamination may result from the breastfeeding ( 9 , 22 , 23 ).…”

Section: Discussionsupporting

confidence: 91%

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Universal Newborn Screening for Congenital Cytomegalovirus Infection – From Infant to Maternal Infection: A Prospective Multicenter Study

Chiereghin

Pavia²,

Turello

et al. 2022

Front. Pediatr.

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Introduction:Most infants at risk for cytomegalovirus (CMV)-associated sensorineural hearing loss (SNHL) are unrecognized because of the absence of a universal neonatal CMV screening. The search of CMV-DNA by molecular methods in salivary swabs was demonstrated to be a reliable approach. This study describes the results obtained by carrying out a universal screening for congenital CMV (cCMV) infection including all live-born newborns in three Italian sites, as well as the therapeutic interventions and clinical outcome of the CMV-infected neonates. Moreover, CMV maternal infection's characteristics were evaluated.MethodsTo confirm or exclude cCMV infection, a CMV-DNA-positive result on a first salivary swab was followed by repeated saliva and urine samples collected within 21 days of age. Breast milk samples were also collected. The search of CMV-DNA was performed with a single automated quantitative commercial real-time PCR assay, regardless of the type of samples used.ResultsA total of 3,151 newborns were enrolled; 21 (0.66%) of them were congenitally infected (median saliva viral load at screening, 6.65 [range, 5.03–7.17] log10 IU/ml). Very low/low viral load in screening saliva samples (median value, 1.87 [range, 1.14–2.59] log10 IU/ml) was associated with false-positive results (n = 54; 1.7%). CMV-DNA was detected in almost half of the breast milk samples of mother–infant pairs with a false-positive result, suggesting that contamination from breast milk may not be the only explanation in the study population. cCMV infection confirmation with the search of CMV-DNA in a urine sample proved to be the gold standard strategy, since false-positive results were observed in 4/54 (7.5%) of the repeated saliva samples. Symptomatic cCMV infection was observed in 3/21 (14.3%) infants; notably, one (4.7%) developed moderate unilateral SNHL at 5 months after birth. Finally, two symptomatic cCMV infections were associated with primary maternal infection acquired in the first trimester of gestation; one newborn with severe cCMV symptoms was born to a mother with no CMV checkups in pregnancy.ConclusionWithout universal neonatal CMV screening, some infected infants who develop late neurological sequelae may not be recognized and, consequently, they are not able to benefit early from instrumental and therapeutic interventions to limit and/or treat CMV disease.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 91%

Universal Newborn Screening for Congenital Cytomegalovirus Infection – From Infant to Maternal Infection: A Prospective Multicenter Study

Chiereghin

Pavia²,

Turello

et al. 2022

Front. Pediatr.

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“…We believe that individual pediatricians are not "at fault" for these knowledge gaps. Unlike some other countries, [24][25][26][27] US medical professional organizations such as the American Academy of Obstetrics and Gynecology and the AAP have not yet prioritized cCMV prevention, diagnosis, and management in practice guidelines. 28 Without the AAP emphasizing the importance of cCMV diagnosis and management, outside of the most severe presentations, 29 pediatricians will continue to experience gaps in their cCMV knowledge and practices which may result in missed opportunities to diagnose and treat cCMV.…”

Section: Discussionmentioning

confidence: 99%

Congenital Cytomegalovirus Knowledge, Practices, and Beliefs Among Primary Care Physicians and Newborn Hospitalists

Pesch

Muldoon

2022

J Prim Care Community Health

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Background: Congenital cytomegalovirus (cCMV) affects 1 in every 200 United States infants, at present there are 9 states which mandate newborn cCMV screening. With more infants being diagnosed, more children will need continuing care from providers who are knowledgeable about cCMV. Objectives: To examine pediatric provider knowledge, practices, and beliefs around cCMV. Methods: Primary care and newborn hospitalist pediatricians (N = 103) from Michigan, who “regularly care for infants” were invited to participate in a survey about their cCMV-related knowledge, clinical practices, and beliefs. Results: Respondents had low knowledge of typical cCMV presentation and sequelae, with mixed knowledge of screening and testing standards. Most (68%) reported rarely/never screening for cCMV, though 71% strongly agreed/agreed that primary care providers should test for cCMV. Most (90%) strongly agreed/agreed that infants who fail/refer on their newborn hearing screen should be tested for cCMV, yet 81% expressed not being comfortable diagnosing and managing cCMV. Most (72%) felt that cCMV was not sufficiently covered in their medical training; almost all respondents endorsed interest in learning more. Conclusions: Primary care and newborn hospitalists in this study expressed mixed knowledge about, infrequent practice of and low comfort with screening and caring for children with cCMV. This may present a prime opportunity for education and clinician support by professional organizations.

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“…The results from this study highlight the critical need for systematic cCMV screening and testing programs to diagnose most infants with cCMV. Examples of such programs include hearing-targeted cCMV testing, in which all infants who fail their newborn hearing screening are then tested for cCMV, and universal/routine screening programs, in which all infants are screened for cCMV regardless of apparent risk factors [ 40 , 44 , 45 ]. Such programs have been found to be effective and acceptable in several studies [ 46 , 47 , 48 , 49 , 50 ], although the debate about cost-effectiveness persists [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities

Wilson

Shah

Pesch

2022

IJNS

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Newborn congenital cytomegalovirus (cCMV) screening programs have been found to increase the rates of early diagnosis and treatment. In North America, newborn cCMV screening programs have not been widely implemented, leaving healthcare providers to rely on clinical suspicion alone to prompt testing. This study sought to examine healthcare providers’ cCMV testing practices at a quaternary children’s hospital. A retrospective review of the electronic health record was completed for eligible infants over a six-year period. Bivariate calculations and analyses were performed. Between 2014 and 2019, a total of 40,091 infants were cared for at the study institution, of which 178 were tested for cCMV and 10 infants were diagnosed with cCMV. Isolated small-for-gestational age was the most common indication (53/178) to prompt testing. Overall, the cCMV testing rate was 4.5 tests per 1000 infants, with a resulting diagnostic prevalence of 0.2 cases per 1000 infants, which is 15-fold lower than the expected prevalence. Providers relying on clinical suspicion alone are infrequently testing infants for cCMV, resulting in missed diagnoses and missed opportunities for treatment. Systematic cCMV screening practices may improve diagnosis, treatment, and childhood outcomes.

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Universal newborn screening for congenital cytomegalovirus infection: feasibility and relevance in a French type‐III maternity cohort

Abstract: In 62% of congenital cytomegalovirus infection cases, only universal neonatal screening in saliva can detect infection.

Cited by 18 publications

References 39 publications

Universal Newborn Screening for Congenital Cytomegalovirus Infection – From Infant to Maternal Infection: A Prospective Multicenter Study

Universal Newborn Screening for Congenital Cytomegalovirus Infection – From Infant to Maternal Infection: A Prospective Multicenter Study

Congenital Cytomegalovirus Knowledge, Practices, and Beliefs Among Primary Care Physicians and Newborn Hospitalists

Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities

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